TY  - JOUR
JF  - Archives of Disease in Childhood
TI  - Friedreich's ataxia-associated childhood hypertrophic cardiomyopathy: a national cohort study
IS  - 5
VL  - 107
SP  - 450
N2  - OBJECTIVE: Hypertrophic cardiomyopathy (HCM) is an important predictor of long-term outcomes in Friedreich's ataxia (FA), but the clinical spectrum and survival in childhood is poorly described. This study aimed to describe the clinical characteristics of children with FA-HCM. DESIGN AND SETTING: Retrospective, longitudinal cohort study of children with FA-HCM from the UK. PATIENTS: 78 children (<18 years) with FA-HCM diagnosed over four decades. INTERVENTION: Anonymised retrospective demographic and clinical data were collected from baseline evaluation and follow-up. MAIN OUTCOME MEASURES: The primary study end-point was all-cause mortality (sudden cardiac death, atrial arrhythmia-related death, heart failure-related death, non-cardiac death) or cardiac transplantation. RESULTS: The mean age at diagnosis of FA-HCM was 10.9 (±3.1) years. Diagnosis was within 1 year of cardiac referral in 34 (65.0%) patients, but preceded the diagnosis of FA in 4 (5.3%). At baseline, 65 (90.3%) had concentric left ventricular hypertrophy and 6 (12.5%) had systolic impairment. Over a median follow-up of 5.1 years (IQR 2.4-7.3), 8 (10.5%) had documented supraventricular arrhythmias and 8 (10.5%) died (atrial arrhythmia-related n=2; heart failure-related n=1; non-cardiac n=2; or unknown cause n=3), but there were no sudden cardiac deaths. Freedom from death or transplantation at 10 years was 80.8% (95% CI 62.5 to 90.8). CONCLUSIONS: This is the largest cohort of childhood FA-HCM reported to date and describes a high prevalence of atrial arrhythmias and impaired systolic function in childhood, suggesting early progression to end-stage disease. Overall mortality is similar to that reported in non-syndromic childhood HCM, but no patients died suddenly.
ID  - discovery10136114
AV  - public
KW  - Cardiology
KW  -  neurology
KW  -  paediatrics
A1  - Norrish, G
A1  - Rance, T
A1  - Montanes, E
A1  - Field, E
A1  - Brown, E
A1  - Bhole, V
A1  - Stuart, G
A1  - Uzun, O
A1  - McLeod, KA
A1  - Ilina, M
A1  - Adwani, S
A1  - Daubeney, P
A1  - Delle Donne, G
A1  - Linter, K
A1  - Jones, CB
A1  - Bharucha, T
A1  - Cervi, E
A1  - Kaski, JP
Y1  - 2022/04/20/
N1  - This work is licensed under a Creative Commons Attribution 4.0 International License. The images
or other third party material in this article are included in the Creative Commons license,
unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license,
users will need to obtain permission from the license holder to reproduce the material. To view a copy of this
license, visit http://creativecommons.org/licenses/by/4.0/
UR  - https://adc.bmj.com/content/early/recent
EP  - 455
ER  -